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Panel Epilepsy_674 genes_v2 Revised 17.01.2020 AARS AARS2 ABAT ABCD1 ACOX1 ACTB ACTG1 ACY1 ADAM22 ADAR ADGRG1 ADGRV1 ADRA2B ADSL AGA AHI1 AIMP1 AIMP2 AKT3 ALDH4A1 ALDH5A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 ALPL AMACR AMPD2 AMT AP3B2 APTX ARFGEF2 ARG1 ARHGEF9 ARID1B ARL13B ARSA ARV1 ARX ASAH1 ASH1L ASNS

Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

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Page 1: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

Panel Epilepsy_674 genes_v2 Revised 17.01.2020

AARS

AARS2

ABAT

ABCD1

ACOX1

ACTB

ACTG1

ACY1

ADAM22

ADAR

ADGRG1

ADGRV1

ADRA2B

ADSL

AGA

AHI1

AIMP1

AIMP2

AKT3

ALDH4A1

ALDH5A1

ALDH7A1

ALG1

ALG11

ALG12

ALG13

ALG2

ALG3

ALG6

ALG8

ALG9

ALPL

AMACR

AMPD2

AMT

AP3B2

APTX

ARFGEF2

ARG1

ARHGEF9

ARID1B

ARL13B

ARSA

ARV1

ARX

ASAH1

ASH1L

ASNS

Page 2: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

ASPA

ASPM

ASXL2

ASXL3

ATAD1

ATIC

ATP1A2

ATP1A3

ATP5F1A

ATP6AP2

ATP6V0A2

ATP6V1A

ATP7A

ATPAF2

ATR

ATRX

B4GALT1

B9D2

BCKDHA

BCKDHB

BCKDK

BCL11B

BCS1L

BOLA3

BRAT1

BRPF1

BSCL2

BTD

BUB1B

C12orf57

C12orf65

CACNA1A

CACNA1D

CACNB4

CAD

CAMK2A

CASK

CASR

CC2D2A

CCDC88A

CCDC88C

CCND2

CDK10

CDK13

CDK5RAP2

CDKL5

CDON

CENPJ

CEP135

CEP152

Page 3: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

CEP164

CEP290

CEP41

CEP63

CHD1

CHD2

CHMP1A

CHRNA2

CHRNA4

CHRNB2

CIC

CLCN2

CLCN4

CLN3

CLN5

CLN6

CLN8

CLTC

CNKSR2

CNNM2

CNPY3

CNTN2

CNTNAP2

COG1

COG2

COG4

COG5

COG6

COG7

COG8

COL18A1

COL4A1

COL4A2

COQ2

COQ4

COQ6

COQ8A

COQ9

COX10

COX15

CPA6

CPLANE1

CPLX1

CPT2

CRPPA

CSTB

CTC1

CTSA

CTSD

CTSF

Page 4: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

CUL4B

CYFIP2

D2HGDH

DBT

DCX

DDOST

DDX3X

DENND5A

DEPDC5

DHCR24

DHCR7

DHDDS

DHFR

DHX30

DIAPH1

DLD

DNAJC5

DNAJC6

DNM1

DNM1L

DOCK7

DOLK

DPAGT1

DPM1

DPM2

DPM3

DPYD

DPYS

DYNC1H1

DYRK1A

EARS2

EBP

EEF1A2

EFHC1

EHMT1

EIF2B1

EIF2B2

EIF2B3

EIF2B4

EIF2B5

EIF2S3

EML1

EMX2

EPG5

EPM2A

ETFA

ETFB

ETFDH

ETHE1

EXOSC3

Page 5: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

EZH2

FAM126A

FAR1

FARS2

FASTKD2

FAT4

FBXL4

FGF12

FGFR3

FH

FIG4

FKRP

FKTN

FLNA

FLVCR2

FOLR1

FOXG1

FOXH1

FRRS1L

FUCA1

GABBR2

GABRA1

GABRB1

GABRB2

GABRB3

GABRD

GABRG2

GAL

GALC

GAMT

GATM

GBA

GCDH

GCH1

GCSH

GDI1

GFAP

GJC2

GLB1

GLDC

GLI2

GLRA1

GLRB

GLUD1

GLUL

GLYCTK

GM2A

GNAO1

GNAQ

GNB1

Page 6: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

GNE

GNPTAB

GNS

GOSR2

GPAA1

GPC3

GPHN

GRIA3

GRIA4

GRIN1

GRIN2A

GRIN2B

GRIN2D

GRN

GSS

GTPBP2

GTPBP3

GUSB

HACE1

HAX1

HCFC1

HCN1

HDAC4

HECW2

HEPACAM

HERC1

HEXA

HEXB

HGSNAT

HMGCL

HNRNPH2

HNRNPU

HPD

HRAS

HSD17B10

HSD17B4

HSPD1

HTRA2

HTT

IBA57

IDH2

IDS

IDUA

IER3IP1

IFIH1

IKBKG

INPP5E

INPP5K

IQSEC2

ISCA1

Page 7: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

ISCA2

ITPA

KANSL1

KCNA1

KCNA2

KCNB1

KCNC1

KCNH1

KCNJ10

KCNJ11

KCNMA1

KCNQ2

KCNQ3

KCNQ5

KCNT1

KCNT2

KCTD7

KDM5C

KDM6A

KIAA1109

KIF1A

KIF2A

KIF5A

KIF5C

KIF7

KMT2C

KMT2D

KMT5B

KPTN

L2HGDH

LAGE3

LAMA2

LAMC3

LARGE1

LGI1

LIAS

LIPT2

LRPPRC

MAF

MAGEL2

MAN1B1

MAP2K1

MAP2K2

MAPK10

MBD5

MBOAT7

MCOLN1

MCPH1

MDH2

MECP2

Page 8: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

MED12

MED17

MEF2C

MFF

MFSD8

MGAT2

MLC1

MMACHC

MMADHC

MOCS1

MOCS2

MOGS

MPDU1

MTHFR

MTO1

MTOR

MTR

NACC1

NAGLU

NALCN

NARS2

NDE1

NDUFA1

NDUFA10

NDUFA11

NDUFA2

NDUFAF2

NDUFAF3

NDUFAF4

NDUFAF5

NDUFS1

NDUFS2

NDUFS3

NDUFS4

NDUFS6

NDUFS7

NDUFS8

NDUFV1

NECAP1

NEDD4L

NEU1

NEXMIF

NFIX

NGLY1

NHEJ1

NHLRC1

NIN

NNT

NOTCH3

NPC1

Page 9: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

NPC2

NPHP1

NPRL2

NPRL3

NR2F1

NRXN1

NSD1

NSDHL

NTRK2

NUBPL

NUS1

OCLN

OFD1

OPHN1

OSGEP

OTUD6B

OTX2

PACS1

PAFAH1B1

PAH

PAK3

PC

PCCA

PCCB

PCDH12

PCDH19

PCLO

PCNT

PDE6D

PDHA1

PDHX

PDSS1

PDSS2

PEX1

PEX10

PEX11B

PEX12

PEX13

PEX14

PEX16

PEX19

PEX2

PEX26

PEX3

PEX5

PEX6

PEX7

PGAP2

PGK1

PGM1

Page 10: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

PHF6

PHGDH

PIGA

PIGC

PIGH

PIGL

PIGM

PIGN

PIGO

PIGP

PIGT

PIGV

PIGW

PIGY

PIK3CA

PIK3R2

PLA2G6

PLAA

PLCB1

PLP1

PLPBP

PMM2

PMPCB

PNKP

PNPO

POLG

POLR3A

POLR3B

POMGNT1

POMT1

POMT2

PPP3CA

PPT1

PQBP1

PRDX1

PRICKLE1

PRICKLE2

PRMT7

PRODH

PRRT2

PRUNE1

PSAP

PSAT1

PSPH

PTCH1

PTEN

PTS

PURA

QARS

QDPR

Page 11: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

RAB11B

RAB18

RAB39B

RAB3GAP1

RAB3GAP2

RAC1

RAI1

RARS2

RBBP8

RELN

RFT1

RHOBTB2

RMND1

RNASEH2A

RNASEH2B

RNASEH2C

RNASET2

ROGDI

RPGRIP1L

RPL10

RRM2B

RTN4IP1

RTTN

RUSC2

RXYLT1

SAMHD1

SARS

SCARB2

SCN1A

SCN1B

SCN2A

SCN3A

SCN8A

SCN9A

SCO1

SCO2

SDHA

SEPSECS

SERPINI1

SETBP1

SETD2

SETD5

SGPL1

SGSH

SHANK3

SHH

SIK1

SIX3

SLC12A5

SLC13A5

Page 12: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

SLC16A2

SLC17A5

SLC19A3

SLC1A2

SLC1A3

SLC25A1

SLC25A12

SLC25A15

SLC25A19

SLC25A22

SLC2A1

SLC35A1

SLC35A2

SLC35C1

SLC39A8

SLC45A1

SLC46A1

SLC6A1

SLC6A19

SLC6A5

SLC6A8

SLC9A6

SMARCA2

SMC1A

SMPD1

SMS

SNAP29

SOX10

SPATA5

SPTAN1

SRD5A3

SRPX2

SSR4

ST3GAL3

ST3GAL5

STAG1

STAMBP

STIL

STRADA

STX1B

STXBP1

SUCLA2

SUCLG1

SUMF1

SUOX

SURF1

SYN1

SYNGAP1

SYNJ1

SYP

Page 13: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

SZT2

TACO1

TBC1D23

TBC1D24

TBCD

TBCE

TBCK

TBL1XR1

TBX19

TCF4

TCTN1

TCTN2

TCTN3

TGIF1

TIMM50

TIMMDC1

TMEM138

TMEM165

TMEM216

TMEM231

TMEM237

TMEM67

TMEM70

TMTC3

TOE1

TPP1

TRAK1

TRAPPC12

TRAPPC6B

TREX1

TRIT1

TRPM6

TSC1

TSC2

TSEN2

TSEN34

TSEN54

TSFM

TTC21B

TUBA1A

TUBA8

TUBB

TUBB2A

TUBB2B

TUBB3

TUBB4A

TUBG1

TWNK

UBA5

UBE2A

Page 14: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …

UBE3A

UFM1

UNC80

USP18

VANGL1

VARS

VLDLR

VPS13A

VRK1

WARS2

WDR26

WDR45

WDR45B

WDR62

WDR73

WWOX

YWHAG

ZBTB18

ZC4H2

ZEB2

ZIC2

ZNF335

ZNF423

ZNHIT3

ZSWIM6

Page 15: Panel Epilepsy 674 genes v2 Revised 17.01 - HUG...GJC2 GLB1 GLDC GLI2 GLRA1 GLRB GLUD1 GLUL GLYCTK GM2A GNAO1 GNAQ GNB1 GNE GNPTAB GNS GOSR2 GPAA1 GPC3 GPHN GRIA3 GRIA4 GRIN1 …